Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia (Q24605412)

20 October 2023

Joshua Hersheson

Joshua

Hersheson

1 reference

20 October 2023

Henry Houlden

Henry

Houlden

1 reference

Kailash Phatechand Bhatia

20 October 2023

Kailash P Bhatia

Kailash P

Bhatia

1 reference

20 October 2023

Katherine Fawcett

Katherine

Fawcett

1 reference

20 October 2023

Daniah Trabzuni

Daniah

Trabzuni

1 reference

20 October 2023

Alan Pittman

Alan

Pittman

1 reference

20 October 2023

Nicholas W Wood

Nicholas W

Wood

1 reference

20 October 2023

John Hardy

John

Hardy

1 reference

20 October 2023

Mina Ryten

Mina

Ryten

1 reference

20 October 2023

Niccolo E Mencacci

Niccolo E

Mencacci

1 reference

20 October 2023

Mary Davis

Mary

Davis

1 reference

20 October 2023

Nicola MacDonald

Nicola

MacDonald

1 reference

20 October 2023

Reema Paudel

Reema

Paudel

1 reference

20 October 2023

Eleanna Kara

Eleanna

Kara

1 reference

20 October 2023

Alan J Medlar

Alan J

Medlar

1 reference

20 October 2023

Horia C Stanescu

Horia C

Stanescu

1 reference

20 October 2023

Robert Kleta

Robert

Kleta

1 reference

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

20 October 2023

language of work or name

English

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publication date

April 2013

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546-53

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

A method and server for predicting damaging missense mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

A genetic study of idiopathic focal dystonias

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Mutations in CIZ1 cause adult onset primary cervical dystonia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

27 September 2017

Milestones in dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Functional imaging in hereditary dystonia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

The monogenic primary dystonias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Mega2: data-handling for facilitating genetic linkage and association analyses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Autosomal recessive, DYT2-like primary torsion dystonia: a new family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Evidence for locus heterogeneity in autosomal dominant torsion dystonia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Microtubules and microtubule-associated proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Sequence of a highly divergent beta tubulin gene reveals regional heterogeneity in the beta tubulin polypeptide

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Hereditary whispering dysphonia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Autoregulated instability of tubulin mRNAs: a novel eukaryotic regulatory mechanism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Autoregulated changes in stability of polyribosome-bound beta-tubulin mRNAs are specified by the first 13 translated nucleotides

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

Advances in the genetics of primary torsion dystonia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3698699

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset

30 May 2018

1 reference

Primary torsion dystonia: the search for genes is not over.

21 January 2018

1 reference

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal

21 January 2018

1 reference

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

21 January 2018

1 reference

Pathophysiology of dystonia

21 January 2018

1 reference

Phenotypes and genetic architecture of focal primary torsion dystonia

21 January 2018

1 reference

Autoregulated instability of β-tubulin mRNAs by recognition of the nascent amino terminus of βtubulin

21 January 2018

1 reference

A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3.

21 January 2018

1 reference

12 December 2020

Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe

1 reference

12 December 2020

Phenotype variability of dystonia in monozygotic twins

1 reference

12 December 2020

Classification of dystonia

1 reference

12 December 2020

Tolcapone: COMT inhibition for the treatment of Parkinson's disease

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/ANA.23832

1 reference

1 reference

1 reference

1 reference